Abstract
A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedriech's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when counselling patients with this disorder.
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CITATION STYLE
APA
Harding, A. E., & Zilkha, K. J. (1981). “Pseudo-dominant” inheritance in Friedreich’s ataxia. Journal of Medical Genetics, 18(4), 285–287. https://doi.org/10.1136/jmg.18.4.285
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